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The award will support a broad interdisciplinary effort studying themutation of the FMR1 gene responsible for fragile X-associated tremor/ataxiasyndrome (FXTAS) and fragile X syndrome (FXS). It will help develop targetedtreatments for FXTAS, a neurodegenerative disorder, its closely relatedconditions of Alzheimer's and Parkinson's disease, and for FXS, aneurodevelopmental disorder. The award will result in the creation of theNeuroTherapeutics Research Institute (NTRI) at UC Davis.
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According to Paul Hagerman, "Fundamental research on neuronal function inboth human and mouse cultured cells, as well as work in whole animals, willexpand our knowledge of the processes that underlie both fragile X syndromeand FXTAS. This research should inform our treatments for both disorders,providing a nice economy of scale."
FXTAS is one of the most common late-onset, neurodegenerative disordersknown to be associated with a single gene. Its core features includeprogressive tremor and difficulty with balance and walking, with associatedfeatures of memory loss and dementia, parkinsonism, and peripheral neuropathy.
FXS is the leading heritable form of intellectual disability and theneurodevelopmental problems related to both full mutation and premutationforms of the fragile X gene. The full mutation is responsible for FXS and isthe leading known single-gene cause of autism. The smaller, premutation formof the gene is the leading known cause of fragile X-associated prematureovarian failure (POF) in adult women, and can also cause ADHD and autismspectrum disorders.
The award is of particular importance to the NFXF and the families itserves. Besides the foundation's pilot funding of the Hagerman team'sresearch, it is also impacted in the following ways:
According to Paul Hagerman, "The National Fragile X Foundation has beenthe most powerful voice for a broad approach to Fragile X research, which isso critical if we are to develop integrated treatments for children withfragile X syndrome -- and their grandfathers."
Several aspects of the consortium research will involve bothmolecular/cellular and animal models for the developmental problems thataccompany both the premutation and full mutation of the Fragile X gene. Thus,it is hoped that treatments for FXTAS, Alzheimer's and Parkinson's disease,FXS and autism may flow from the consortium's work.
While the hub of the consortium is at UC Davis, the group includesinvestigators at Erasmus Medical Center, Rotterdam, the Netherlands; theUniversity of Washington, Seattle; the University of Colorado Health SciencesCenter, Denver; and Scripps Research Institute, Florida. All research siteswill share the common objectives of developing therapeutic interventions andquantitative means for assessing their efficacy.
The award underscores the growing commitment at the NIH to disordersrelated to the Fragile X gene. The current award will be administered acrossfour institutes: the National Center for Research Resources (NCRR), theNational Institute on Aging (NIA), the National Institute of NeurologicalDisorders and Stroke (NINDS), and t
